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Els De Vriendt | Researchclopedia

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Els De Vriendt

VIB-UAntwerp Center for Molecular Neurology ORCID

66

Works

4,057

Citations

28

h-index

40

i10-index

Research Topics

Hereditary Neurological Disorders Neurological diseases and metabolism Genetic Neurodegenerative Diseases

Affiliations

Scripps Research Institute2017–2017

Cliniques Universitaires Saint-Luc2007–2007

University of Antwerp1998–2025

University of Ferrara2007–2007

United Arab Emirates University2006–2006

Top Works

Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

Kristien Verhoeven,Peter De Jonghe,et al.

2003452 citations

RNA Research and Splicing

Neurogenetic and Muscular Disorders Research

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Joy Irobi,Katrien Van Impe,et al.

2004417 citations

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

Albena Jordanova,Joy Irobi,et al.

2006369 citations

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Gregor Kuhlenbäumer,Mark Hannibal,et al.

2005260 citations

The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot–Marie–Tooth phenotype

Peter De Jonghe,Vincent Timmerman,et al.

1999221 citations

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

Annelies Rotthier,Michaela Auer‐Grumbach,et al.

2010186 citations

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

Annelies Rotthier,Jonathan Baets,et al.

2009165 citations

Mechanisms for Nonrecurrent Genomic Rearrangements Associated with CMT1A or HNPP: Rare CNVs as a Cause for Missing Heritability

Feng Zhang,Pavel Seeman,et al.

2010161 citations

Novel missense mutation in the early growth response 2 gene associated with Dejerine–Sottas syndrome phenotype

Vincent Timmerman,Peter De Jonghe,et al.

1999153 citations